Mutations in the Desert hedgehog (DHH) Gene in Patients with 46,XY Complete Pure Gonadal Dysgenesis

Mutations of SRY are the cause of complete pure gonadal dysgenesis (PGD) in 10-15% of patients. In the remaining individuals, it has been suggested that mutations in other genes involved in the testis-determining pathway could be causative. We describe the first report in which three cases of 46,XY ... View More